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Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders

This study has been terminated.
(the Principal Investigator left the institution)
Information provided by:
Massachusetts General Hospital Identifier:
First received: July 16, 2010
Last updated: May 23, 2011
Last verified: May 2011
In this study, we will measure levels of reproductive hormones and metabolic markers in subjects with isolated GnRH deficiency disorders and compare them to healthy control populations. Our goals are (1) to chart the range of hormonal and metabolic biomarkers in healthy subjects and those with reproductive disorders and (2) to correlate reproductive and metabolic phenotypes with genetic changes within patients with reproductive disorders and healthy controls.

Idiopathic Hypogonadotropic Hypogonadism
Hypothalamic Amenorrhea

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Detailed Clinical, Biochemical and Genetic Characterization in GnRH Deficiency Disorders

Further study details as provided by Massachusetts General Hospital:

Primary Outcome Measures:
  • Serum/plasma markers [ Time Frame: baseline ]
    At the study visit, serum and plasma samples will be taken to measure levels of reproductive hormones and metabolic markers in the subjects' blood.

Secondary Outcome Measures:
  • Genetics [ Time Frame: baseline ]
    At the study visit, blood will be taken and DNA cell lines will be made to screen for genes that potentially contribute to the development of reproductive disorders

Biospecimen Retention:   Samples With DNA
serum, plasma, DNA

Enrollment: 50
Study Start Date: June 2010
Study Completion Date: October 2010
Primary Completion Date: October 2010 (Final data collection date for primary outcome measure)
Hypothalamic Amenorrhea
This group is for pre-menopausal women between the aged 18-40 who have been previously diagnosed with Hypothalamic Amenorrhea. They can be currently diagnosed or may have recovered.
Healthy Adult Men
This group is men over the age of 18 who do not have any history of reproductive disorders or chronic disease.
Healthy Adult Women
This group is pre-menopausal, regularly menstruating women ages 18-40 who do not have a history of reproductive disorders or chronic disease.
Idiopathic Hypogonadotropic Hypogonadism
This group is for adult men and women over the age of 18 who have been diagnosed with Idiopathic Hypogonadotropic Hypogonadism with or without anosmia.


Ages Eligible for Study:   18 Years to 40 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
The reproductive disorder populations will be recruited from the reproductive endocrine clinic at the Mass General Hospital. The control populations will be recruited from Boston and surrounding communities

Inclusion Criteria:

  • Over the age of 18 for men
  • Between the ages of 18 and 40 for women
  • For reproductive disorder population: Current or previous diagnosis of Idiopathic Hypogonadotropic Hypogonadism or Hypothalamic Amenorrhea

Exclusion Criteria:

  • chronic disease (hypertension, high cholesterol, diabetes, asthma, etc)
  • polycystic ovarian syndrome for women
  • prescription medication use (other than allergy meds) for control populations
  • irregular menstrual cycles for healthy female control population (cycle length longer than 35 days or shorter than 25 days. cycle length varies by more than 5 days. less than 9 periods per year)
  Contacts and Locations
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Please refer to this study by its identifier: NCT01165619

United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Sponsors and Collaborators
Massachusetts General Hospital
  More Information

Responsible Party: Nelly Pitteloud, MD, Massachusetts General Hospital Identifier: NCT01165619     History of Changes
Other Study ID Numbers: 1200204347-BL
Study First Received: July 16, 2010
Last Updated: May 23, 2011

Additional relevant MeSH terms:
Gonadal Disorders
Endocrine System Diseases
Menstruation Disturbances
Pathologic Processes processed this record on May 25, 2017